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rs587777849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777849(A;A)
Make rs587777849(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position49374439
GeneKCNB1
is asnp
is mentioned by
dbSNPrs587777849
ebirs587777849
HLIrs587777849
Exacrs587777849
Varsomers587777849
Maprs587777849
PheGenIrs587777849
hapmaprs587777849
1000 genomesrs587777849
hgdprs587777849
ensemblrs587777849
gopubmedrs587777849
geneviewrs587777849
scholarrs587777849
googlers587777849
pharmgkbrs587777849
gwascentralrs587777849
openSNPrs587777849
23andMers587777849
23andMe allrs587777849
SNP Nexus

SNPshotrs587777849
SNPdbers587777849
MSV3drs587777849
GWAS Ctlgrs587777849
Max Magnitude0
ClinVar
Risk rs587777849(A;A)
Alt rs587777849(A;A)
Reference rs587777849(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNB1
CLNDBN Epileptic encephalopathy, early infantile, 26
Reversed 0
HGVS NC_000020.10:g.47990976G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144690.2,